Adult type mucolipidosis with ?-galactosidase and sialidase deficiency

Author:

Kobayashi T.,Ohta M.,Goto I.,Tanaka Y.,Kuroiwa Y.

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Reference23 articles.

1. Fukunaga, H., Hirose, K., Beppu, H., Uono, M., Suzuki, Y.: Two siblings with mucolipidosis. Clin. Neurol. (Tokyo) 16, 566?573 (1976)

2. Ghadially, F. N.: Lysosomes. In: Ultrastructural pathology of the cell, pp. 291?368. London, Boston: Butterworths 1975

3. Goldberg, M. F., Cotlier, E., Fichenscher, L. G., Kenyon, K., Enat, R., Borowsky, S. A.: Macular cherry-red spot, corneal clouding, and ?-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease. Arch. Intern. Med. 128, 387?398 (1971)

4. Goldstein, M., Kolodny, E. H., Gascon, G. G., Gilles, F. H.: Macular cherry-red spot, myoclonic epilepsy, and neurovisceral storage in a 17 year-old girl. Trans. Am. Neurol. Assoc. 99, 110?112 (1975)

5. Kuriyama, M., Umezaki, H., Okada, S., Tanaka, Y., Ishii, N.: Adult mucolipidosis with ?-galactosidase deficiency: a clinical report, with studies of urinary sialic acid-rich substance. Clin. Neurol. (Tokyo) 18, 358?363 (1978)

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